Work in the Wisconsin Clinical Genetics Center (WCGC) includes: 1.) Delineation of new birth defect syndromes, their cause, natural history, prognosis and treatment; 2.) study of the biochemical and cytogenetic aspects of new and known syndromes in collaboration with pertinent investigators; 3.) better clinical delineation of known syndromes; 4.) studies of genetic pleiotropy in man, in mendelian, chromosomal and sporadic syndromes; 5.) investigations of the nature of gene expression in tissues, organs, cells of individuals (expressivity), in individuals vis-a-vis their genotype (penetrance) and in generations vs. their genotypes (phenotrance), in skeletal dysplasias (achondroplasia), malformation syndromes (Wiedemann-Beckwith syndrome) and cancers (retinoblastoma, Wilms' tumor, carotid body tumors, multiple glomus tumors and multiple cutaneous leiomyomata; 6.) studies of the use and applicability of methods of numerical taxonomy and other methods in clinical genetics and genetical nosology; 7.) studies of prenatal diagnosis, the incidence of the Down Syndrome and neural tube defects in Wisconsin; 8.) studies of the prevalence of developmental disabilities in Burnett Co., Wi.; 9.) surveys of all of the Old Order Amish in Wisconsin, Illinois, Iowa, Missouri, & Minnesota; 10.) total body dissections of fetuses and infants with known (genetic) syndromes and experimental studies of aneuploid mammals; 11.) causal, nosological and empiric recurrence risk studies in severe mental retardation; 12.) gross, microscopic, electronmicroscopic and histochemical pathological studies in genetic syndromes. BIBLIOGRAPHIC REFERENCES: Gilchrist, K.W., Gilbert, E.F., Goldfarb, S., Goll, U., Spranger, J.W., and Opitz, J.M. Studies of malformation syndromes in man XIB: The cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Europ. J. Pediat. 121:99-118, 1976. Neuhauser, G., Daly, R.F., Magnelli, N.C., Barreras, R.F., Donaldson, R.M., and Opitz, J.M. Essential tremor, nystagmus, and duodenal ulceration, a "new" dominantly inherited condition. Clinical Genetics 9/1:81-91, 1976.